MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 10 transcript(s)...
Querying Taster for transcript #1: ENST00000470495
Querying Taster for transcript #2: ENST00000472863
Querying Taster for transcript #3: ENST00000311626
Querying Taster for transcript #4: ENST00000498678
Querying Taster for transcript #5: ENST00000490677
Querying Taster for transcript #6: ENST00000460160
Querying Taster for transcript #7: ENST00000489475
Querying Taster for transcript #8: ENST00000476342
Querying Taster for transcript #9: ENST00000485909
Querying Taster for transcript #10: ENST00000465846
MT speed 0 s - this script 7.835867 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
HOXB3	polymorphism_automatic	0.881412537427366	simple_aae				P82T	single base exchange	rs2229304		show file
HOXB3	polymorphism_automatic	0.881412537427366	simple_aae				P82T	single base exchange	rs2229304		show file
HOXB3	polymorphism_automatic	0.881412537427366	simple_aae				P82T	single base exchange	rs2229304		show file
HOXB3	polymorphism_automatic	0.881412537427366	simple_aae				P82T	single base exchange	rs2229304		show file
HOXB3	polymorphism_automatic	0.933574043602838	simple_aae				P9T	single base exchange	rs2229304		show file
HOXB3	polymorphism_automatic	0.933574043602838	simple_aae				P9T	single base exchange	rs2229304		show file
HOXB3	polymorphism_automatic	1	without_aae					single base exchange	rs2229304		show file
HOXB3	polymorphism_automatic	1	without_aae					single base exchange	rs2229304		show file
HOXB-AS3	polymorphism_automatic	1	without_aae					single base exchange	rs2229304		show file
HOXB3	polymorphism_automatic	1	without_aae					single base exchange	rs2229304		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.118587462572634 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:46629593G>TN/A show variant in all transcripts IGV

HGNC symbol

HOXB3

Ensembl transcript ID

ENST00000470495

Genbank transcript ID

N/A

UniProt peptide

P14651

alteration type

single base exchange

alteration region

CDS

DNA changes

c.244C>A
cDNA.1692C>A
g.52682C>A

AA changes

P82T Score: 38 explain score(s)

position(s) of altered AA
if AA alteration in CDS

frameshift

known variant

Reference ID: rs2229304

database	homozygous (T/T)	heterozygous	allele carriers
1000G	978	1066	2044
ExAC	27235	-21703	5532

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.811	1
	3.267	1
(flanking)	1.669	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

205

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000040097

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000048763

Ggallus

not conserved

ENSGALG00000013455

140

PVY

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000029263

Dmelanogaster

no alignment

FBgn0004054

n/a

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000021967

EQSQ

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1296 / 1296

position (AA) of stopcodon in wt / mu AA sequence

432 / 432

position of stopcodon in wt / mu cDNA

2744 / 2744

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1449 / 1449

chromosome

strand

-1

last intron/exon boundary

1897

theoretical NMD boundary in CDS

398

length of CDS

1296

coding sequence (CDS) position

244

cDNA position
(for ins/del: last normal base / first normal base)

1692

gDNA position
(for ins/del: last normal base / first normal base)

52682

chromosomal position
(for ins/del: last normal base / first normal base)

46629593

original gDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGCCCCTGTCGGCCCCGCCTGGC

altered gDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGACCCTGTCGGCCCCGCCTGGC

original cDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGCCCCTGTCGGCCCCGCCTGGC

altered cDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGACCCTGTCGGCCCCGCCTGGC

wildtype AA sequence

MQKATYYDNA AAALFGGYSS YPGSNGFGFD VPPQPPFQAA THLEGDYQRS ACSLQSLGNA
APHAKSKELN GSCMRPGLAP EPLSAPPGSP PPSAAPTSAT SNSSNGGGPS KSGPPKCGPG
TNSTLTKQIF PWMKESRQTS KLKNNSPGTA EGCGGGGGGG GGGGSGGSGG GGGGGGGGDK
SPPGSAASKR ARTAYTSAQL VELEKEFHFN RYLCRPRRVE MANLLNLSER QIKIWFQNRR
MKYKKDQKAK GLASSSGGPS PAGSPPQPMQ STAGFMNALH SMTPSYESPS PPAFGKAHQN
AYALPSNYQP PLKGCGAPQK YPPTPAPEYE PHVLQANGGA YGTPTMQGSP VYVGGGGYAD
PLPPPAGPSL YGLNHLSHHP SGNLDYNGAP PMAPSQHHGP CEPHPTYTDL SSHHAPPPQG
RIQEAPKLTH L*

mutated AA sequence

MQKATYYDNA AAALFGGYSS YPGSNGFGFD VPPQPPFQAA THLEGDYQRS ACSLQSLGNA
APHAKSKELN GSCMRPGLAP ETLSAPPGSP PPSAAPTSAT SNSSNGGGPS KSGPPKCGPG
TNSTLTKQIF PWMKESRQTS KLKNNSPGTA EGCGGGGGGG GGGGSGGSGG GGGGGGGGDK
SPPGSAASKR ARTAYTSAQL VELEKEFHFN RYLCRPRRVE MANLLNLSER QIKIWFQNRR
MKYKKDQKAK GLASSSGGPS PAGSPPQPMQ STAGFMNALH SMTPSYESPS PPAFGKAHQN
AYALPSNYQP PLKGCGAPQK YPPTPAPEYE PHVLQANGGA YGTPTMQGSP VYVGGGGYAD
PLPPPAGPSL YGLNHLSHHP SGNLDYNGAP PMAPSQHHGP CEPHPTYTDL SSHHAPPPQG
RIQEAPKLTH L*

speed

1.20 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.118587462572634 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:46629593G>TN/A show variant in all transcripts IGV

HGNC symbol

HOXB3

Ensembl transcript ID

ENST00000311626

Genbank transcript ID

N/A

UniProt peptide

P14651

alteration type

single base exchange

alteration region

CDS

DNA changes

c.244C>A
cDNA.1141C>A
g.52682C>A

AA changes

P82T Score: 38 explain score(s)

position(s) of altered AA
if AA alteration in CDS

frameshift

known variant

Reference ID: rs2229304

database	homozygous (T/T)	heterozygous	allele carriers
1000G	978	1066	2044
ExAC	27235	-21703	5532

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.811	1
	3.267	1
(flanking)	1.669	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

205

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000040097

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000048763

Ggallus

not conserved

ENSGALG00000013455

140

PVY

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000029263

Dmelanogaster

no alignment

FBgn0004054

n/a

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000021967

EQSQ

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1296 / 1296

position (AA) of stopcodon in wt / mu AA sequence

432 / 432

position of stopcodon in wt / mu cDNA

2193 / 2193

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

898 / 898

chromosome

strand

-1

last intron/exon boundary

1346

theoretical NMD boundary in CDS

398

length of CDS

1296

coding sequence (CDS) position

244

cDNA position
(for ins/del: last normal base / first normal base)

1141

gDNA position
(for ins/del: last normal base / first normal base)

52682

chromosomal position
(for ins/del: last normal base / first normal base)

46629593

original gDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGCCCCTGTCGGCCCCGCCTGGC

altered gDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGACCCTGTCGGCCCCGCCTGGC

original cDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGCCCCTGTCGGCCCCGCCTGGC

altered cDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGACCCTGTCGGCCCCGCCTGGC

wildtype AA sequence

mutated AA sequence

speed

1.14 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.118587462572634 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:46629593G>TN/A show variant in all transcripts IGV

HGNC symbol

HOXB3

Ensembl transcript ID

ENST00000498678

Genbank transcript ID

N/A

UniProt peptide

P14651

alteration type

single base exchange

alteration region

CDS

DNA changes

c.244C>A
cDNA.816C>A
g.52682C>A

AA changes

P82T Score: 38 explain score(s)

position(s) of altered AA
if AA alteration in CDS

frameshift

known variant

Reference ID: rs2229304

database	homozygous (T/T)	heterozygous	allele carriers
1000G	978	1066	2044
ExAC	27235	-21703	5532

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.811	1
	3.267	1
(flanking)	1.669	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

205

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000040097

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000048763

Ggallus

not conserved

ENSGALG00000013455

140

PVY

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000029263

Dmelanogaster

no alignment

FBgn0004054

n/a

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000021967

EQSQ

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1296 / 1296

position (AA) of stopcodon in wt / mu AA sequence

432 / 432

position of stopcodon in wt / mu cDNA

1868 / 1868

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

573 / 573

chromosome

strand

-1

last intron/exon boundary

1021

theoretical NMD boundary in CDS

398

length of CDS

1296

coding sequence (CDS) position

244

cDNA position
(for ins/del: last normal base / first normal base)

816

gDNA position
(for ins/del: last normal base / first normal base)

52682

chromosomal position
(for ins/del: last normal base / first normal base)

46629593

original gDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGCCCCTGTCGGCCCCGCCTGGC

altered gDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGACCCTGTCGGCCCCGCCTGGC

original cDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGCCCCTGTCGGCCCCGCCTGGC

altered cDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGACCCTGTCGGCCCCGCCTGGC

wildtype AA sequence

mutated AA sequence

speed

1.18 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.118587462572634 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:46629593G>TN/A show variant in all transcripts IGV

HGNC symbol

HOXB3

Ensembl transcript ID

ENST00000476342

Genbank transcript ID

N/A

UniProt peptide

P14651

alteration type

single base exchange

alteration region

CDS

DNA changes

c.244C>A
cDNA.368C>A
g.52682C>A

AA changes

P82T Score: 38 explain score(s)

position(s) of altered AA
if AA alteration in CDS

frameshift

known variant

Reference ID: rs2229304

database	homozygous (T/T)	heterozygous	allele carriers
1000G	978	1066	2044
ExAC	27235	-21703	5532

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.811	1
	3.267	1
(flanking)	1.669	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

205

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000040097

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000048763

Ggallus

not conserved

ENSGALG00000013455

140

PVY

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000029263

Dmelanogaster

no alignment

FBgn0004054

n/a

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000021967

EQSQ

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1296 / 1296

position (AA) of stopcodon in wt / mu AA sequence

432 / 432

position of stopcodon in wt / mu cDNA

1420 / 1420

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

125 / 125

chromosome

strand

-1

last intron/exon boundary

573

theoretical NMD boundary in CDS

398

length of CDS

1296

coding sequence (CDS) position

244

cDNA position
(for ins/del: last normal base / first normal base)

368

gDNA position
(for ins/del: last normal base / first normal base)

52682

chromosomal position
(for ins/del: last normal base / first normal base)

46629593

original gDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGCCCCTGTCGGCCCCGCCTGGC

altered gDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGACCCTGTCGGCCCCGCCTGGC

original cDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGCCCCTGTCGGCCCCGCCTGGC

altered cDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGACCCTGTCGGCCCCGCCTGGC

wildtype AA sequence

mutated AA sequence

speed

0.56 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.0664259563971615 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:46629593G>TN/A show variant in all transcripts IGV

HGNC symbol

HOXB3

Ensembl transcript ID

ENST00000472863

Genbank transcript ID

N/A

UniProt peptide

P14651

alteration type

single base exchange

alteration region

CDS

DNA changes

c.25C>A
cDNA.335C>A
g.52682C>A

AA changes

P9T Score: 38 explain score(s)

position(s) of altered AA
if AA alteration in CDS

frameshift

known variant

Reference ID: rs2229304

database	homozygous (T/T)	heterozygous	allele carriers
1000G	978	1066	2044
ExAC	27235	-21703	5532

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.811	1
	3.267	1
(flanking)	1.669	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

130

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000040097

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000048763

Ggallus

no alignment

ENSGALG00000013455

n/a

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000029263

Dmelanogaster

no alignment

FBgn0004054

n/a

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000021967

EQSQ

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1077 / 1077

position (AA) of stopcodon in wt / mu AA sequence

359 / 359

position of stopcodon in wt / mu cDNA

1387 / 1387

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

311 / 311

chromosome

strand

-1

last intron/exon boundary

540

theoretical NMD boundary in CDS

179

length of CDS

1077

coding sequence (CDS) position

cDNA position
(for ins/del: last normal base / first normal base)

335

gDNA position
(for ins/del: last normal base / first normal base)

52682

chromosomal position
(for ins/del: last normal base / first normal base)

46629593

original gDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGCCCCTGTCGGCCCCGCCTGGC

altered gDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGACCCTGTCGGCCCCGCCTGGC

original cDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGCCCCTGTCGGCCCCGCCTGGC

altered cDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGACCCTGTCGGCCCCGCCTGGC

wildtype AA sequence

MRPGLAPEPL SAPPGSPPPS AAPTSATSNS SNGGGPSKSG PPKCGPGTNS TLTKQIFPWM
KESRQTSKLK NNSPGTAEGC GGGGGGGGGG GSGGSGGGGG GGGGGDKSPP GSAASKRART
AYTSAQLVEL EKEFHFNRYL CRPRRVEMAN LLNLSERQIK IWFQNRRMKY KKDQKAKGLA
SSSGGPSPAG SPPQPMQSTA GFMNALHSMT PSYESPSPPA FGKAHQNAYA LPSNYQPPLK
GCGAPQKYPP TPAPEYEPHV LQANGGAYGT PTMQGSPVYV GGGGYADPLP PPAGPSLYGL
NHLSHHPSGN LDYNGAPPMA PSQHHGPCEP HPTYTDLSSH HAPPPQGRIQ EAPKLTHL*

mutated AA sequence

MRPGLAPETL SAPPGSPPPS AAPTSATSNS SNGGGPSKSG PPKCGPGTNS TLTKQIFPWM
KESRQTSKLK NNSPGTAEGC GGGGGGGGGG GSGGSGGGGG GGGGGDKSPP GSAASKRART
AYTSAQLVEL EKEFHFNRYL CRPRRVEMAN LLNLSERQIK IWFQNRRMKY KKDQKAKGLA
SSSGGPSPAG SPPQPMQSTA GFMNALHSMT PSYESPSPPA FGKAHQNAYA LPSNYQPPLK
GCGAPQKYPP TPAPEYEPHV LQANGGAYGT PTMQGSPVYV GGGGYADPLP PPAGPSLYGL
NHLSHHPSGN LDYNGAPPMA PSQHHGPCEP HPTYTDLSSH HAPPPQGRIQ EAPKLTHL*

speed

0.77 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.0664259563971615 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:46629593G>TN/A show variant in all transcripts IGV

HGNC symbol

HOXB3

Ensembl transcript ID

ENST00000489475

Genbank transcript ID

N/A

UniProt peptide

P14651

alteration type

single base exchange

alteration region

CDS

DNA changes

c.25C>A
cDNA.727C>A
g.52682C>A

AA changes

P9T Score: 38 explain score(s)

position(s) of altered AA
if AA alteration in CDS

frameshift

known variant

Reference ID: rs2229304

database	homozygous (T/T)	heterozygous	allele carriers
1000G	978	1066	2044
ExAC	27235	-21703	5532

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.811	1
	3.267	1
(flanking)	1.669	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

130

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000040097

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000048763

Ggallus

no alignment

ENSGALG00000013455

n/a

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000029263

Dmelanogaster

no alignment

FBgn0004054

n/a

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000021967

EQSQ

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1077 / 1077

position (AA) of stopcodon in wt / mu AA sequence

359 / 359

position of stopcodon in wt / mu cDNA

1779 / 1779

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

703 / 703

chromosome

strand

-1

last intron/exon boundary

932

theoretical NMD boundary in CDS

179

length of CDS

1077

coding sequence (CDS) position

cDNA position
(for ins/del: last normal base / first normal base)

727

gDNA position
(for ins/del: last normal base / first normal base)

52682

chromosomal position
(for ins/del: last normal base / first normal base)

46629593

original gDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGCCCCTGTCGGCCCCGCCTGGC

altered gDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGACCCTGTCGGCCCCGCCTGGC

original cDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGCCCCTGTCGGCCCCGCCTGGC

altered cDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGACCCTGTCGGCCCCGCCTGGC

wildtype AA sequence

mutated AA sequence

speed

0.96 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 1.91424205473924e-27 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:46629593G>TN/A show variant in all transcripts IGV

HGNC symbol

HOXB3

Ensembl transcript ID

ENST00000490677

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.52682C>A

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs2229304

database	homozygous (T/T)	heterozygous	allele carriers
1000G	978	1066	2044
ExAC	27235	-21703	5532

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.811	1
	3.267	1
(flanking)	1.669	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

1053

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

139 / 139

chromosome

strand

-1

last intron/exon boundary

188

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

894

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

52682

chromosomal position
(for ins/del: last normal base / first normal base)

46629593

original gDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGCCCCTGTCGGCCCCGCCTGGC

altered gDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGACCCTGTCGGCCCCGCCTGGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MNGICRVRAR GGERRKEGCG GGGGGGGGGG SGGSGGGGGG GGGGDKSPPG SAASKRARTA
YTSAQLVELE KEFHFNRYLC RPRRVEMANL LNLSERQIKI WFQNRRMKYK KDQKAKGLAS
SSGGPSPAGS PPQPMQSTAG FMNALHSMTP SYESPSPPAF GKAHQNAYAL PSNYQPPLKG
CGAPQKYPPT PAPEYEPHVL QANGGAYGTP TMQGSPVYVG GGGYADPLPP PAGPSLYGLN
HLSHHPSGNL DYNGAPPMAP SQHHGPCEPH PTYTDLSSHH APPPQGRIQE APKLTHL*

mutated AA sequence

N/A

speed

0.77 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 1.91424205473924e-27 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:46629593G>TN/A show variant in all transcripts IGV

HGNC symbol

HOXB3

Ensembl transcript ID

ENST00000460160

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.52682C>A

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs2229304

database	homozygous (T/T)	heterozygous	allele carriers
1000G	978	1066	2044
ExAC	27235	-21703	5532

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.811	1
	3.267	1
(flanking)	1.669	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

141

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

559 / 559

chromosome

strand

-1

last intron/exon boundary

611

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

900

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

52682

chromosomal position
(for ins/del: last normal base / first normal base)

46629593

original gDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGCCCCTGTCGGCCCCGCCTGGC

altered gDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGACCCTGTCGGCCCCGCCTGGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MKESRQTSKL KNNSPGTAEG CGGGGGGGGG GGSGGSGGGG GGGGGGDKSP PGSAASKRAR
TAYTSAQLVE LEKEFHFNRY LCRPRRVEMA NLLNLSERQI KIWFQNRRMK YKKDQKAKGL
ASSSGGPSPA GSPPQPMQST AGFMNALHSM TPSYESPSPP AFGKAHQNAY ALPSNYQPPL
KGCGAPQKYP PTPAPEYEPH VLQANGGAYG TPTMQGSPVY VGGGGYADPL PPPAGPSLYG
LNHLSHHPSG NLDYNGAPPM APSQHHGPCE PHPTYTDLSS HHAPPPQGRI QEAPKLTHL*

mutated AA sequence

N/A

speed

0.95 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 1.91424205473924e-27 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:46629593G>TN/A show variant in all transcripts IGV

HGNC symbol

HOXB-AS3

Ensembl transcript ID

ENST00000465846

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.2602G>T

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs2229304

database	homozygous (T/T)	heterozygous	allele carriers
1000G	978	1066	2044
ExAC	27235	-21703	5532

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.811	1
	3.267	1
(flanking)	1.669	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

2285

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

134 / 134

chromosome

strand

last intron/exon boundary

177

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

231

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

2602

chromosomal position
(for ins/del: last normal base / first normal base)

46629593

original gDNA sequence snippet

GCCAGGCGGGGCCGACAGGGGCTCGGGGGCCAGACCCGGCC

altered gDNA sequence snippet

GCCAGGCGGGGCCGACAGGGTCTCGGGGGCCAGACCCGGCC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MKENSASSLL SKPRGRLRLK RSRMEEGIGT HLQTSTVSRK FGSIPSPRTH QPRSWQNPLT
NQENTDPVCL LTTEWN*

mutated AA sequence

N/A

speed

0.48 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 1.91424205473924e-27 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:46629593G>TN/A show variant in all transcripts IGV

HGNC symbol

HOXB3

Ensembl transcript ID

ENST00000485909

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.52682C>A

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs2229304

database	homozygous (T/T)	heterozygous	allele carriers
1000G	978	1066	2044
ExAC	27235	-21703	5532

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.811	1
	3.267	1
(flanking)	1.669	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

141

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

313 / 313

chromosome

strand

-1

last intron/exon boundary

365

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

900

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

52682

chromosomal position
(for ins/del: last normal base / first normal base)

46629593

original gDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGCCCCTGTCGGCCCCGCCTGGC

altered gDNA sequence snippet

GGCCGGGTCTGGCCCCCGAGACCCTGTCGGCCCCGCCTGGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

mutated AA sequence

N/A

speed

0.79 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems